Linked Data
ClinVar Variation Id:
2191897
ClinVar RCV Id:
RCV002620838
dbSNP Id:
rs755363281
ExAC:
20:44685053 C / T
gnomAD v2:
20-44685053-C-T
gnomAD v3:
20-46056414-C-T
gnomAD v4:
20-46056414-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46056414C>T , CM000682.2:g.46056414C>T | GRCh38 |
| NC_000020.10:g.44685053C>T , CM000682.1:g.44685053C>T | GRCh37 |
| NC_000020.9:g.44118460C>T | NCBI36 |
| NG_046341.1:g.39725C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.2960C>T MANE Select | ENSP00000243964.4:p.Pro987Leu | |
| ENST00000243964.6:c.2960C>T | ENSP00000243964.3:p.Pro987Leu | |
| ENST00000454036.6:c.3029C>T | ENSP00000387694.1:p.Pro1010Leu | |
| ENST00000616201.4:c.1298-2242C>T | ENSP00000484585.1:n.1298-2242C>T | |
| ENST00000616202.4:c.613-2067C>T | ENSP00000478369.1:n.613-2067C>T | |
| ENST00000616933.4:c.*2278C>T | ENSP00000477569.1:n.*2278C>T | |
| ENST00000626937.2:c.510-3185C>T | ENSP00000485953.1:n.510-3185C>T | |
| ENST00000628413.1:n.476C>T | ||
| NM_001134771.1:c.3029C>T | NP_001128243.1:p.Pro1010Leu | |
| NM_020708.4:c.2960C>T | NP_065759.1:p.Pro987Leu | |
| XM_017027981.1:c.3029C>T | XP_016883470.1:p.Pro1010Leu | |
| NM_001134771.2:c.3029C>T | NP_001128243.1:p.Pro1010Leu | |
| NM_020708.5:c.2960C>T MANE Select | NP_065759.1:p.Pro987Leu |